Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal aortic valve morphology (HP:0001646)

Parent Node:
Abnormal aortic valve cusp morphology (HP:0031567)

..Starting node
..Quadricuspid aortic valve (HP:0031655)

Term ID:

31655

Name:

Quadricuspid aortic valve

Synonym:

Definition:

The presence of an aortic valve with four instead of the normal three cusps (flaps).

Comments:

Reference:

HP:0031655

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent aortic valve cusps (HP:0031569)

Bicuspid aortic valve (HP:0001647)

Thickened aortic valve cusp (HP:0031568)

Unicuspid aortic valve (HP:0012561)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031655	HP:0031655	Quadricuspid aortic valve	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134

Genes (1) :TNXB

Diseases (1) :OMIM:606408

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.